HPO annotations distribution

HP Patient percentage
Abdominal aortic aneurysm 5.0
Abnormal blood vessel morphology 20.0
Abnormal vascular morphology 20.0
Phenotypic abnormality 100.0
Aortic aneurysm 5.0
Abnormal aortic morphology 10.0
Abnormal morphology of the great vessels 20.0
Abnormal systemic arterial morphology 10.0
Abnormality of the cardiovascular system 25.0
All 100.0
Abnormality of the vasculature 20.0
Abnormal cardiovascular system morphology 25.0
Vascular dilatation 5.0
Cryptorchidism 20.0
Hydroureter 5.0
Hydronephrosis 10.0
Xerostomia 5.0
Pectus excavatum 5.0
Pectus carinatum 10.0
Congenital hip dislocation 5.0
Oligohydramnios 5.0
Patent ductus arteriosus 5.0
Talipes equinovarus 10.0
Anal atresia 5.0
Prune belly 5.0
Aplasia of the abdominal wall musculature 5.0
Congenital posterior urethral valve 5.0
Slow pupillary light response 5.0
Lower extremity joint dislocation 5.0
Abnormal male external genitalia morphology 20.0
Talipes 10.0
Congenital malformation of the great arteries 10.0
Abnormality of the mouth 40.0
Urethrovesical occlusion 5.0
Abnormal renal morphology 15.0
Abnormal digestive system morphology 10.0
Abnormality of prenatal development or birth 15.0
Abnormal eye physiology 40.0
Abnormality of the musculoskeletal system 55.00000000000001
Positional foot deformity 10.0
Urethral obstruction 5.0
Abnormal pupillary function 5.0
Dilatation of the renal pelvis 10.0
Abnormality of the anus 10.0
Abnormal external genitalia 20.0
Abnormal thorax morphology 15.0
Abnormality of the digestive system 15.0
Abnormal morphology of the abdominal musculature 5.0
Abnormal testis morphology 20.0
Abnormality of the lower urinary tract 10.0
Abnormal oral physiology 5.0
Abnormality of the face 55.00000000000001
Abnormal anus morphology 10.0
Abnormality of the amniotic fluid 15.0
Abnormality of the genital system 25.0
Abnormal axial skeleton morphology 55.00000000000001
Abnormal hip bone morphology 5.0
Abnormality of limbs 60.0
Abnormality of the urethra 10.0
Abnormal ureter morphology 5.0
Abnormal hip joint morphology 5.0
Abnormality of the head 60.0
Abnormality of the upper urinary tract 15.0
Abnormality of the male genitalia 20.0
Abnormal pelvic girdle bone morphology 15.0
Abnormality of the genitourinary system 25.0
Abnormal reproductive system morphology 25.0
Abnormality of the ureter 5.0
Abnormal appendicular skeleton morphology 50.0
Abnormality of the eye 45.0
Abnormality of the kidney 15.0
Hip dislocation 5.0
Abnormality of head or neck 60.0
Abnormality of the skeletal system 55.00000000000001
Abnormal joint morphology 30.0
Abnormality of the urinary system 20.0
Abnormality of the lower limb 45.0
Abnormal sternum morphology 10.0
Abnormal skeletal morphology 55.00000000000001
Abnormality of salivation 5.0
Hip dysplasia 5.0
Abnormality of the abdominal wall 5.0
Abnormality of the musculature 15.0
Abnormal renal pelvis morphology 10.0
Aplasia/Hypoplasia of the abdominal wall musculature 5.0
Urethral valve 5.0
Abnormal pupillary light reflex 5.0
Joint dislocation 10.0
Abnormality of lower limb joint 10.0
Abnormal foot morphology 40.0
Abnormal skeletal muscle morphology 5.0
Strabismus 30.0
Abducens palsy 5.0
Abnormal conjugate eye movement 30.0
Abnormality of the nervous system 50.0
Abnormal nervous system physiology 45.0
Abnormality of eye movement 30.0
Abnormal cranial nerve physiology 5.0
Cranial nerve paralysis 5.0
Cleft palate 20.0
Cleft upper lip 5.0
Microcephaly 10.0
Esotropia 5.0
Microphthalmia 5.0
Hypertension 5.0
Cutis marmorata 5.0
Brachydactyly 25.0
Intellectual disability 30.0
Seizure 10.0
Global developmental delay 10.0
Generalized hypotonia 5.0
Pachygyria 5.0
Calvarial skull defect 5.0
Alopecia 5.0
Ventricular septal defect 10.0
Atrial septal defect 5.0
Tetralogy of Fallot 5.0
Pulmonic stenosis 5.0
Bicuspid aortic valve 5.0
Aortic valve stenosis 5.0
Toe syndactyly 20.0
Small nail 5.0
Hypoplasia of the corpus callosum 10.0
Encephalocele 5.0
Pulmonary arterial hypertension 5.0
Ventriculomegaly 10.0
Polymicrogyria 5.0
Cortical dysplasia 5.0
Supernumerary nipple 5.0
Hypoplastic left heart 5.0
Pulmonary artery stenosis 5.0
Periventricular leukomalacia 5.0
Aplasia cutis congenita on trunk or limbs 5.0
Aplasia cutis congenita over posterior parietal area 5.0
Imperforate hymen 5.0
Abnormality of pulmonary circulation 5.0
Abnormality of skull size 15.0
Abnormal forebrain morphology 20.0
Abnormal pulmonary artery morphology 5.0
Aplasia/Hypoplasia affecting the eye 5.0
Abnormal skull morphology 50.0
Abnormal vagina morphology 10.0
Abnormal cardiac ventricle morphology 10.0
Abnormality of globe size 10.0
Abnormal cardiovascular system physiology 5.0
Lissencephaly 5.0
Abnormal respiratory system morphology 20.0
Thin corpus callosum 15.0
Abnormal muscle tone 10.0
Abnormality of the pulmonary artery 5.0
Hypoplastic heart 5.0
Abnormal lung morphology 10.0
Aplasia/Hypoplasia involving the central nervous system 15.0
Abnormality of the nail 10.0
Aplasia cutis congenita of scalp 5.0
Abnormal cerebral cortex morphology 10.0
Vascular skin abnormality 5.0
Abnormal vascular physiology 5.0
Neural tube defect 10.0
Abnormal cardiac septum morphology 10.0
Aplasia/Hypoplasia of the corpus callosum 15.0
Abnormal cerebral morphology 20.0
Abnormality of mental function 35.0
Abnormality of the female genitalia 10.0
Abnormal muscle physiology 10.0
Generalized abnormality of skin 5.0
Abnormal heart morphology 15.0
Leukoencephalopathy 5.0
Morphological central nervous system abnormality 35.0
Aplasia cutis congenita over parietal area 5.0
Increased blood pressure 5.0
Short digit 30.0
Pre-capillary pulmonary hypertension 5.0
Congenital malformation of the left heart 5.0
Cephalocele 5.0
Abnormal internal genitalia 10.0
Abnormal heart valve physiology 5.0
Abnormal breast morphology 15.0
Abnormal hair morphology 25.0
Neurodevelopmental delay 15.0
Aplasia cutis congenita 5.0
Abnormality of the integument 65.0
Abnormal cortical gyration 5.0
Abnormal brain morphology 30.0
Abnormal skin morphology 50.0
Abnormal eye morphology 30.0
Elevated pulmonary artery pressure 5.0
Abnormal heart valve morphology 5.0
Localized skin lesion 35.0
Abnormal digit morphology 45.0
Abnormal nervous system morphology 35.0
Abnormal lip morphology 15.0
Abnormal pulmonary valve physiology 5.0
Abnormality of neuronal migration 5.0
Abnormal atrial septum morphology 5.0
Abnormality of the pulmonary vasculature 5.0
Abnormal systemic blood pressure 5.0
Abnormality of limb bone 45.0
Abnormal aortic valve morphology 5.0
Cleft lip 5.0
Abnormal toe morphology 25.0
Orofacial cleft 20.0
Abnormal aortic valve physiology 5.0
Open neural tube defect 5.0
Abnormal cardiac atrium morphology 5.0
Syndactyly 20.0
Abnormal morphology of female internal genitalia 10.0
Abnormal ventricular septum morphology 10.0
Abnormal aortic valve cusp morphology 5.0
Abnormal calvaria morphology 40.0
Abnormal ventriculoarterial connection 5.0
Decreased head circumference 10.0
Aplasia/Hypoplasia of the skin 5.0
Abnormality of the breast 15.0
Aplasia/Hypoplasia of the nails 5.0
Abnormal skin adnexa morphology 30.0
Abnormal oral cavity morphology 35.0
Abnormal cerebral white matter morphology 15.0
Abnormal limb bone morphology 45.0
Abnormal upper lip morphology 15.0
Heterotropia 5.0
Abnormal nipple morphology 10.0
Abnormality of the respiratory system 20.0
Abnormal cerebral ventricle morphology 25.0
Abnormality of the skin 55.00000000000001
Abnormal cerebral subcortex morphology 15.0
Abnormal hair quantity 10.0
Esodeviation 5.0
Abnormal connection of the cardiac segments 5.0
Hypotonia 10.0
Aplasia/Hypoplasia of the cerebrum 15.0
Abnormal respiratory system physiology 20.0
Craniofacial cleft 20.0
Abnormal palate morphology 25.0
Neurodevelopmental abnormality 35.0
Abnormal periventricular white matter morphology 5.0
Conotruncal defect 5.0
Abnormal oral morphology 35.0
Abnormal neural tube morphology 10.0
Abnormal corpus callosum morphology 15.0
Acanthosis nigricans 5.0
Thickened skin 15.0
Epidermal thickening 15.0
Brachycephaly 25.0
Micrognathia 15.0
Arachnodactyly 5.0
Joint hypermobility 15.0
Broad skull 5.0
Aplasia/hypoplasia involving the skeleton 40.0
Slender finger 5.0
Abnormality of joint mobility 30.0
Aplasia/Hypoplasia of the mandible 15.0
Abnormal facial skeleton morphology 45.0
Abnormal finger morphology 35.0
Abnormality of the upper limb 50.0
Aplasia/hypoplasia affecting bones of the axial skeleton 25.0
Aplasia/Hypoplasia involving bones of the skull 15.0
Abnormal musculoskeletal physiology 35.0
Long fingers 10.0
Abnormality of the hand 50.0
Abnormal mandible morphology 35.0
Abnormal jaw morphology 40.0
Abnormal joint physiology 30.0
Hydrocephalus 20.0
Macrocephaly 5.0
Malar flattening 20.0
Recurrent otitis media 5.0
Conductive hearing impairment 5.0
Choanal stenosis 15.0
Short ribs 5.0
Motor delay 5.0
Megalencephaly 10.0
Limited elbow extension 5.0
Polyhydramnios 10.0
Premature rupture of membranes 5.0
Frontal bossing 10.0
Pulmonary hypoplasia 5.0
Respiratory distress 5.0
Brain stem compression 5.0
Small foramen magnum 5.0
Generalized joint hypermobility 5.0
Upper airway obstruction 5.0
Lumbar hyperlordosis 5.0
Genu varum 5.0
Femoral bowing 5.0
Radial bowing 5.0
Flared metaphysis 5.0
Ulnar bowing 5.0
Limited hip extension 5.0
Short femur 5.0
Narrow greater sciatic notch 5.0
Trident hand 5.0
Severe platyspondyly 5.0
Thoracic hypoplasia 5.0
Depressed nasal bridge 20.0
Spinal stenosis with reduced interpedicular distance 5.0
Lumbar kyphosis in infancy 5.0
Narrow vertebral interpedicular distance 10.0
Rhizomelia 10.0
Neonatal short-limb short stature 5.0
Infantile muscular hypotonia 5.0
Midface retrusion 15.0
Feeding difficulties 5.0
Short femoral neck 5.0
Lumbar kyphosis 5.0
Abnormal zygomatic bone morphology 20.0
Abnormality of the middle ear 10.0
Abnormality of the nose 35.0
Abnormal diaphysis morphology 5.0
Abnormality of the immune system 15.0
Abnormal greater sciatic notch morphology 5.0
Platyspondyly 5.0
Abnormality of immune system physiology 15.0
Abnormal lower limb bone morphology 20.0
Abnormal frontal bone morphology 10.0
Aplasia/Hypoplasia involving the femoral head and neck 5.0
Short long bone 15.0
Abnormal forearm bone morphology 25.0
Aplasia/Hypoplasia involving bones of the thorax 5.0
Short stature 25.0
Abnormal pattern of respiration 5.0
Abnormal lung development 5.0
Limited elbow movement 10.0
Abnormal upper limb bone morphology 30.0
Abnormal ear morphology 20.0
Abnormal forearm morphology 25.0
Limb undergrowth 10.0
Abnormal delivery 5.0
Abnormality of the forehead 25.0
Abnormal midface morphology 25.0
Abnormal rib cage morphology 5.0
Functional abnormality of the middle ear 5.0
Limitation of joint mobility 15.0
Aplasia/Hypoplasia involving the pelvis 5.0
Abnormal choanae morphology 15.0
Abnormality of the vertebral column 15.0
Bowing of the legs 5.0
Growth delay 25.0
Bowing of the long bones 5.0
Growth abnormality 35.0
Disproportionate short-limb short stature 15.0
Abnormal femur morphology 5.0
Abnormal shape of the radius 5.0
Recurrent infections 5.0
Abdominal symptom 5.0
Abnormality of the ear 25.0
Increased inflammatory response 10.0
Aplasia/hypoplasia involving bones of the extremities 30.0
Abnormal curvature of the vertebral column 10.0
Abnormality of body height 30.0
Abnormal metaphysis morphology 5.0
Hearing impairment 25.0
Disproportionate short stature 15.0
Abnormal cerebrospinal fluid morphology 20.0
Abnormal ear physiology 25.0
Abnormal middle ear morphology 10.0
Metaphyseal widening 5.0
Aplasia/hypoplasia of the femur 5.0
Unusual infection 5.0
Abnormal brainstem morphology 5.0
Aplasia/Hypoplasia of the lungs 5.0
Abnormal femoral neck/head morphology 5.0
Abnormal morphology of ulna 10.0
Abnormal long bone morphology 30.0
Bowed forearm bones 5.0
Otitis media 10.0
Abnormal nasal bridge morphology 20.0
Spinal canal stenosis 10.0
Aplasia/Hypoplasia of the ribs 5.0
Aplasia/hypoplasia of the extremities 35.0
Bowing of the arm 5.0
Vertebral arch anomaly 10.0
Abnormality of digestive system physiology 5.0
Limited hip movement 5.0
Abnormal nasal morphology 35.0
Abnormal shape of the frontal region 10.0
Abnormality of the elbow 20.0
Airway obstruction 5.0
Abnormal knee morphology 5.0
Abnormal foramen magnum morphology 5.0
Hyperlordosis 5.0
Abnormal form of the vertebral bodies 10.0
Abnormal vertebral morphology 15.0
Abnormality of the calf 5.0
Abnormal morphology of the radius 25.0
Dyspnea 5.0
Abnormal rib morphology 5.0
Abnormal inflammatory response 10.0
Aplasia/hypoplasia involving bones of the lower limbs 20.0
Hearing abnormality 25.0
Abnormality of upper limb joint 25.0
Increased head circumference 5.0
Abnormal lumbar spine morphology 5.0
Abnormal femoral neck morphology 5.0
Abnormality of the knee 5.0
Paroxysmal sneezing 5.0
Sneeze 5.0
Constitutional symptom 5.0
Tinnitus 5.0
Visual loss 5.0
Diplopia 5.0
Personality changes 5.0
Cafe-au-lait spot 5.0
Axillary freckling 5.0
Neurofibroma 5.0
Ataxia 5.0
Headache 5.0
Vertigo 5.0
Ependymoma 5.0
Juvenile posterior subcapsular lenticular opacities 5.0
Bilateral vestibular schwannoma 5.0
Unilateral vestibular schwannoma 5.0
Astrocytoma 5.0
Peripheral schwannoma 5.0
Retinal hamartoma 5.0
Lisch nodules 5.0
Peripheral neuropathy 5.0
Inguinal freckling 5.0
Epiretinal membrane 5.0
Cortical cataract 5.0
Optic nerve sheath meningioma 5.0
Soft tissue sarcoma 5.0
Functional abnormality of the inner ear 5.0
Abnormal meningeal morphology 10.0
Macule 5.0
Neoplasm of the eye 5.0
Abnormality of binocular vision 5.0
Hamartoma 5.0
Hamartoma of the orbital region 5.0
Subcapsular cataract 5.0
Hypermelanotic macule 5.0
Fibrous tissue neoplasm 5.0
Neuroepithelial neoplasm 5.0
Posterior subcapsular cataract 5.0
Abnormality of coordination 5.0
Neoplasm of the inner ear 5.0
Abnormality of vision 5.0
Abnormal macular morphology 5.0
Irregular hyperpigmentation 5.0
Neoplasm of the nervous system 5.0
Abnormal central motor function 5.0
Abnormal peripheral nervous system morphology 5.0
Cataract 5.0
Abnormal lens morphology 5.0
Abnormality of the inner ear 5.0
Impairment in personality functioning 5.0
Abnormal uvea morphology 10.0
Hamartoma of the eye 5.0
Schwannoma 5.0
Benign neoplasm of the central nervous system 5.0
Abnormality of the vestibulocochlear nerve 5.0
Hyperpigmentation of the skin 5.0
Neoplasm of the central nervous system 5.0
Abnormality of skin pigmentation 15.0
Neoplasm 10.0
Fibroma 5.0
Sarcoma 5.0
Meningioma 5.0
Abnormality of the orbital region 35.0
Freckling 5.0
Zonular cataract 5.0
Neoplasm of the ear 5.0
Neoplasm by histology 5.0
Neoplasm of the peripheral nervous system 5.0
Malignant neoplasm of the central nervous system 5.0
Visual impairment 5.0
Abnormal cranial nerve morphology 5.0
Iris nodule 5.0
Abnormal retinal morphology 5.0
Neoplasm by anatomical site 10.0
Neuroectodermal neoplasm 5.0
Vestibular schwannoma 5.0
Abnormal vestibular function 5.0
Atypical behavior 5.0
Nervous tissue neoplasm 5.0
Abnormal fundus morphology 10.0
Glioma 5.0
Neoplasm of the skin 5.0
Abnormal glial cell morphology 5.0
Abnormality iris morphology 10.0
Abnormal posterior eye segment morphology 10.0
Abnormal astrocyte morphology 5.0
Abnormal anterior eye segment morphology 15.0
Macular thickening 5.0
Vaginal atresia 5.0
Narrow palate 10.0
Bifid uvula 5.0
High palate 10.0
Thin upper lip vermilion 5.0
Large fontanelles 5.0
Brachyturricephaly 10.0
Delayed cranial suture closure 10.0
Mandibular prognathia 20.0
Hypertelorism 20.0
Broad forehead 5.0
High forehead 10.0
Posteriorly rotated ears 5.0
Low-set ears 10.0
Chronic otitis media 5.0
Choanal atresia 10.0
Anteverted nares 10.0
Downslanted palpebral fissures 15.0
Myopia 5.0
Shallow orbits 15.0
Delayed eruption of teeth 10.0
Dental malocclusion 10.0
Hyperhidrosis 5.0
Acne 5.0
Postaxial hand polydactyly 5.0
Preaxial hand polydactyly 5.0
Agenesis of corpus callosum 5.0
Cerebellar hypoplasia 10.0
Absent septum pellucidum 5.0
Pyloric stenosis 5.0
Esophageal atresia 5.0
Overriding aorta 5.0
Delayed epiphyseal ossification 5.0
Humeroradial synostosis 10.0
Ectopic anus 5.0
Coronal craniosynostosis 15.0
Sagittal craniosynostosis 5.0
Lambdoidal craniosynostosis 10.0
Anomalous tracheal cartilage 5.0
Acrobrachycephaly 5.0
Cervical C5/C6 vertebrae fusion 5.0
Rhizomelic arm shortening 5.0
Synostosis of carpal bones 5.0
Wide intermamillary distance 5.0
Chiari type I malformation 5.0
Posterior fossa cyst 5.0
Abnormal morphology of the limbic system 5.0
Broad distal hallux 5.0
Broad distal phalanx of the thumb 5.0
Cutaneous finger syndactyly 5.0
Cutaneous syndactyly of toes 10.0
Prominent forehead 5.0
Flat face 10.0
Arachnoid cyst 5.0
Abnormality of the pylorus 5.0
Abnormal esophagus morphology 5.0
Abnormal epiphysis morphology 10.0
Abnormality of cranial sutures 15.0
Abnormality of the palpebral fissures 20.0
Abnormality of the humerus 10.0
Abnormal finger phalanx morphology 20.0
Abnormal ocular adnexa morphology 30.0
Abnormal external nose morphology 20.0
Duplication of hand bones 10.0
Abnormal tracheobronchial morphology 10.0
Cutaneous syndactyly 10.0
Postaxial polydactyly 5.0
Abnormality of the chin 25.0
Abnormal bone ossification 10.0
Abnormality of dental eruption 10.0
Abnormality of skin adnexa physiology 5.0
Synostosis involving bones of the hand 5.0
Abnormal soft palate morphology 5.0
Hypohidrosis or hyperhidrosis 5.0
Abnormality of thumb phalanx 10.0
Craniosynostosis 15.0
Abnormal morphology of the nasal alae 15.0
Aplasia/Hypoplasia of the cerebellum 10.0
Abnormal bone structure 15.0
Central nervous system cyst 5.0
Abnormality of the humeroradial joint 15.0
Inflammatory abnormality of the skin 5.0
Abnormal carpal morphology 5.0
Broad phalanges of the hand 10.0
Broad phalanx 10.0
Abnormal tracheal morphology 10.0
Turricephaly 15.0
Abnormal stomach morphology 5.0
Abnormality of the wrist 5.0
Abnormal pinna morphology 10.0
Abnormal hallux morphology 20.0
Carpal synostosis 5.0
Abnormality of globe location 20.0
Broad distal phalanx of finger 5.0
Duplication of bones involving the upper extremities 10.0
Abnormality of upper lip vermillion 5.0
Cerebellar malformation 10.0
Genital tract atresia 5.0
Abnormality of the gastrointestinal tract 5.0
Synostosis involving the elbow 10.0
Abnormality of the dentition 20.0
Abnormality of the upper arm 10.0
Fused cervical vertebrae 5.0
Intracranial cystic lesion 5.0
Abnormality of the distal phalanx of the thumb 5.0
Abnormality of the ocular adnexa 30.0
Broad long bones 10.0
Abnormality of the fontanelles or cranial sutures 15.0
Abnormal 5th finger morphology 10.0
Polydactyly 10.0
Abnormal skull base morphology 10.0
Abnormality of refraction 5.0
Chiari malformation 10.0
Abnormal posterior cranial fossa morphology 10.0
Finger syndactyly 10.0
Abnormal eyelid morphology 25.0
Abnormality of the outer ear 10.0
Abnormal thumb morphology 10.0
Preaxial polydactyly 5.0
Abnormal distal phalanx morphology of finger 10.0
Abnormal morphology of bony orbit of skull 15.0
Abnormality of skin physiology 5.0
Abnormal hand morphology 35.0
Abnormal gastrointestinal tract morphology 5.0
Vertebral fusion 5.0
Hand polydactyly 10.0
Synostosis of joints 15.0
Abnormal arachnoid mater morphology 5.0
Broad hallux 10.0
Synostosis involving bones of the upper limbs 15.0
Abnormal metencephalon morphology 15.0
Broad toe 10.0
Broad finger 10.0
Broad thumb 10.0
Abnormal hindbrain morphology 15.0
Abnormal location of ears 10.0
Proptosis 15.0
Abnormal intermamillary distance 5.0
Abnormal facial shape 10.0
Gastrointestinal atresia 5.0
Synostosis of carpals/tarsals 5.0
Slanting of the palpebral fissure 15.0
Abnormal epiphyseal ossification 10.0
Abnormality of fontanelles 5.0
Tooth malposition 15.0
Vertebral segmentation defect 5.0
Abnormal uvula morphology 5.0
Abnormal enchondral ossification 10.0
Abnormal cerebellum morphology 15.0
Duplication of phalanx of hand 10.0
Abnormal nostril morphology 10.0
Thin vermilion border 5.0
Abnormal septum pellucidum morphology 5.0
Oxycephaly 5.0
Low anterior hairline 5.0
Facial asymmetry 5.0
Hypoplasia of the maxilla 15.0
Convex nasal ridge 5.0
Narrow nose 5.0
Ptosis 5.0
Buphthalmos 5.0
Abnormal nasolacrimal system morphology 5.0
Plagiocephaly 5.0
Hallux valgus 5.0
Intellectual disability, moderate 5.0
Skull asymmetry 5.0
Parietal foramina 5.0
Radioulnar synostosis 5.0
Breast carcinoma 5.0
Long nose 5.0
Clinodactyly of the 5th finger 5.0
Flat forehead 5.0
Microtia 5.0
Prominent crus of helix 5.0
Partial duplication of the distal phalanx of the 2nd finger 5.0
Partial duplication of the distal phalanx of the 3rd finger 5.0
Absent first metatarsal 5.0
Cleft of chin 5.0
Abnormal 3rd finger morphology 5.0
Abnormal nasal dorsum morphology 5.0
Polydactyly affecting the 3rd finger 5.0
Abnormality of cartilage of external ear 5.0
Abnormal helix morphology 5.0
Abnormality of the phalanges of the 2nd finger 5.0
Abnormality of the distal phalanx of the 2nd finger 5.0
Deviation of the hallux 5.0
Partial duplication of the phalanges of the 2nd finger 5.0
Duplication of phalanx of 2nd finger 5.0
Aplasia/Hypoplasia of metatarsal bones 10.0
Abnormally large globe 5.0
Abnormality of the crus of the helix 5.0
Deviation of toes 5.0
Abnormal 3rd finger phalanx morphology 5.0
Mesoaxial hand polydactyly 5.0
Abnormality of the hairline 10.0
Partial duplication of the distal phalanges of the hand 5.0
Abnormality of the distal phalanx of the 3rd finger 5.0
Aplasia/Hypoplasia involving bones of the feet 15.0
Abnormal scalp morphology 15.0
Abnormality of the frontal hairline 10.0
Aplasia/Hypoplasia of the external ear 5.0
Abnormal parietal bone morphology 5.0
Aplasia/hypoplasia of the 1st metatarsal 5.0
Abnormal metatarsal morphology 10.0
Partial duplication of the phalanx of hand 5.0
Abnormal maxilla morphology 15.0
Duplication of phalanx of 3rd finger 5.0
Finger clinodactyly 5.0
Abnormality of the scalp hair 10.0
Aplasia/Hypoplasia of the ear 5.0
Abnormal hair pattern 10.0
Neoplasm of the breast 5.0
Absent metatarsal bone 5.0
Deviation of the 5th finger 5.0
Polydactyly affecting the 2nd finger 5.0
Duplication of the distal phalanx of the 3rd finger 5.0
Glaucoma 5.0
Abnormality of the first metatarsal bone 5.0
Duplication of the distal phalanx of hand 5.0
Mesoaxial polydactyly 5.0
Deviation of the hand or of fingers of the hand 5.0
Partial duplication of the phalanges of the 3rd finger 5.0
Deviation of finger 5.0
Clinodactyly 5.0
Congenital abnormal hair pattern 10.0
Ocular anterior segment dysgenesis 5.0
Developmental glaucoma 5.0
Abnormal cartilage morphology 5.0
Abnormal 2nd finger morphology 5.0
Duplication of the distal phalanx of the 2nd finger 5.0
Dental crowding 5.0
Cloverleaf skull 5.0
Bronchomalacia 5.0
Elbow ankylosis 5.0
Short nose 5.0
Short middle phalanx of toe 5.0
Tracheal cartilaginous sleeve 5.0
Shortening of all middle phalanges of the fingers 5.0
3-4 toe cutaneous syndactyly 5.0
Short middle phalanx of finger 5.0
Aplasia/hypoplasia involving bones of the upper limbs 20.0
Short toe 5.0
Aplasia/Hypoplasia of the middle phalanges of the hand 5.0
Abnormal bronchus morphology 5.0
Aplasia/Hypoplasia of fingers 5.0
Abnormal toe phalanx morphology 5.0
Aplasia/Hypoplasia of the phalanges of the hand 10.0
Abnormality of the middle phalanges of the toes 5.0
Short phalanx of finger 10.0
Aplasia/Hypoplasia of toe 5.0
Short finger 5.0
Abnormal middle phalanx morphology of the hand 5.0
Ankylosis 5.0
Aplasia/hypoplasia involving bones of the hand 20.0
Unilateral renal agenesis 5.0
Hypogonadism 5.0
Epicanthus 5.0
Broad nasal tip 5.0
Blue irides 5.0
Optic atrophy 5.0
Hypodontia 5.0
Congenital hypothyroidism 5.0
Irregular menstruation 5.0
Melanocytic nevus 5.0
Broad palm 5.0
Intrauterine growth retardation 10.0
Small for gestational age 5.0
Mild postnatal growth retardation 5.0
Long hallux 5.0
Scoliosis 5.0
Hyperphosphatemia 5.0
Elevated circulating thyroid-stimulating hormone concentration 5.0
Dislocated radial head 5.0
Elevated circulating parathyroid hormone level 5.0
Elevated circulating calcitonin concentration 5.0
Short palm 10.0
Calvarial hyperostosis 5.0
Accelerated skeletal maturation 5.0
Neonatal epiphyseal stippling 5.0
Hypoplastic vertebral bodies 5.0
Short metacarpal 10.0
Cone-shaped epiphyses of the phalanges of the hand 5.0
Short metatarsal 5.0
Mild global developmental delay 5.0
Decreased growth hormone responses to growth hormone-releasing hormone challenge 5.0
Abnormal nasal tip morphology 10.0
Decreased response to growth hormone stimulation test 5.0
Aplasia/Hypoplasia involving the metacarpal bones 10.0
Abnormality of the radial head 5.0
Aplasia/Hypoplasia of the vertebrae 5.0
Abnormal circulating metabolite concentration 5.0
Abnormality of body weight 10.0
Abnormal blood ion concentration 5.0
Acute phase response 5.0
Abnormality of metabolism/homeostasis 5.0
Abnormal epiphysis morphology of the phalanges of the hand 5.0
Upper extremity joint dislocation 5.0
Abnormal upper limb epiphysis morphology 5.0
Abnormal response to endocrine stimulation test 5.0
Epiphyseal stippling 5.0
Cranial hyperostosis 5.0
Abnormal blood phosphate concentration 5.0
Abnormal circulating hormone concentration 5.0
Abnormal circulating calcitonin concentration 5.0
Abnormal endocrine physiology 5.0
Abnormal optic disc morphology 5.0
Phalangeal cone-shaped epiphyses 5.0
Abnormal limb epiphysis morphology 5.0
Abnormal metacarpal morphology 10.0
Nevus 5.0
Abnormal circulating calcium-phosphate regulating hormone concentration 5.0
Aplasia/Hypoplasia involving the vertebral column 5.0
Abnormality of skeletal maturation 5.0
Abnormality of reproductive system physiology 5.0
Abnormality of the anterior pituitary 5.0
Abnormal female reproductive system physiology 5.0
Renal agenesis 5.0
Anterior hypopituitarism 5.0
Abnormal iris pigmentation 5.0
Abnormal thyroid-stimulating hormone level 5.0
Vertebral hypoplasia 5.0
Cone-shaped epiphysis 5.0
Abnormal number of teeth 5.0
Postnatal growth retardation 5.0
Abnormality of the endocrine system 5.0
Hypopituitarism 5.0
Hypothyroidism 5.0
Long toe 5.0
Ectopic calcification 5.0
Tooth agenesis 5.0
Abnormal palm morphology 15.0
Elbow dislocation 5.0
Abnormal optic nerve morphology 5.0
Abnormal hand epiphysis morphology 5.0
Abnormality of the menstrual cycle 5.0
Abnormality of thyroid physiology 5.0
Decreased body weight 5.0
Abnormality of the thyroid gland 5.0
Abnormal pituitary gland morphology 5.0
Renal hypoplasia/aplasia 5.0
Puberty and gonadal disorders 5.0
Abnormality of the hypothalamus-pituitary axis 5.0
Hyperostosis 5.0
Hypospadias 5.0
Widow's peak 5.0
Prominent nose 5.0
Webbed neck 5.0
Carious teeth 5.0
Single transverse palmar crease 5.0
Cerebellar vermis hypoplasia 5.0
Cerebral cortical atrophy 5.0
Enlarged cisterna magna 5.0
Spina bifida occulta 5.0
Preauricular pit 5.0
Mandibulofacial dysostosis 5.0
Abnormal spinal cord morphology 5.0
Spina bifida 5.0
Abnormal skin morphology of the palm 10.0
Abnormal periauricular region morphology 5.0
Abnormal dermatoglyphics 5.0
Atrophy/Degeneration affecting the central nervous system 5.0
Abnormal cheek morphology 5.0
Abnormal cerebellar vermis morphology 5.0
Aplasia/Hypoplasia of the cerebellar vermis 5.0
Abnormality of dental structure 5.0
Abnormality of the palmar creases 5.0
Spinal dysraphism 5.0
Periauricular skin pits 5.0
Enlarged posterior fossa 5.0
Regional abnormality of skin 15.0
Abnormal male urethral meatus morphology 5.0
Abnormality of the neck 5.0
Abnormal neck morphology 5.0
Brain atrophy 5.0
Abnormal palmar dermatoglyphics 5.0
Atrophy/Degeneration affecting the cerebrum 5.0
Craniofacial dysostosis 5.0
Displacement of the urethral meatus 5.0
High anterior hairline 5.0
Skin pit 5.0
Abnormal penis morphology 5.0
Cerebral atrophy 5.0
Fine hair 5.0
Allergy 5.0
Papule 10.0
Skin plaque 5.0
Abnormality of hair texture 5.0
Immunologic hypersensitivity 5.0
Hyperkeratosis 10.0
Acrokeratosis 10.0
Skin nodule 10.0
Ridged nail 5.0
Punctate palmoplantar hyperkeratosis 5.0
Verrucous papule 5.0
Epidermal acanthosis 5.0
Acantholysis 5.0
Nail dysplasia 5.0
Palmar hyperkeratosis 5.0
Abnormal epidermal morphology 5.0
Plantar hyperkeratosis 5.0
Abnormality of the plantar skin of foot 5.0
Palmoplantar hyperkeratosis 5.0
Symmetric great toe depigmentation 5.0
Tall stature 5.0
Soft skin 5.0
Large hands 10.0
Long foot 5.0
Cutis gyrata of scalp 5.0
Periostosis 5.0
Abnormal elasticity of skin 5.0
Abnormal periosteum morphology 5.0
Sloping forehead 5.0
Bulbous nose 5.0
Telecanthus 5.0
Blepharophimosis 5.0
Synophrys 5.0
Tapered finger 5.0
Specific learning disability 5.0
Large for gestational age 5.0
Deep philtrum 5.0
Highly arched eyebrow 5.0
Thickened calvaria 5.0
Thick nasal alae 5.0
Short 5th metacarpal 5.0
Thick vermilion border 5.0
Abnormal eyebrow morphology 5.0
Increased body weight 5.0
Abnormal size of the palpebral fissures 5.0
Facial hypertrichosis 5.0
Abnormality of the philtrum 5.0
Abnormal 5th metacarpal morphology 5.0
Hypertrichosis 5.0
Aplasia/Hypoplasia of the 5th metacarpal 5.0

Ontoplot. Different calls examples (Click me)

Dynamic ontoplot, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", dynamic = True, freq_by="both", fix_alpha="cubic_root", guide_lines="ont")
Dynamic ontoplot, frequency by size, guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", dynamic = True, freq_by="size", fix_alpha="none", guide_lines="grid")
Dynamic ontoplot, frequency by opacity, no guide lines used
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", dynamic = True, freq_by="alpha", fix_alpha="none", guide_lines="none")
Static ontoplot, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", dynamic = False, freq_by="both", fix_alpha="bins", guide_lines="ont")

Static ontoplot, frequency by size, guide lines set by concentric lines at each level of the ontologyplotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", dynamic = False, freq_by="size", fix_alpha="none", guide_lines="grid")

Static ontoplot, frequency by opacity, no guide lines usedplotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", dynamic = False, freq_by="alpha", fix_alpha=lambda x: x**(1/3), guide_lines="none")